Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.
Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion.
Center for Human Genetics, University of Leuven, Belgium., , , ,
Chromosomes, Human, Pair 14
Heart Defects, Congenital
Pub Type(s)Journal Article
Research Support, Non-U.S. Gov't